List of variants reported as pathogenic for Hereditary spastic paraplegia 7 by Genomics England Pilot Project, Genomics England

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	rs752623413	0.00006
NM_003119.4(SPG7):c.2096dup (p.Met699fs)	rs747503698	0.00004
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)	rs779055639	0.00001
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	rs760818649
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)	rs368541637

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